Variant ID | 23597 |
---|---|
Entrez Gene ID | 644943 |
Gene | RASSF10 (GeneCards) |
Location | hg19 11:13102899-13102899
hg38 11:13081352-13081352 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000011.9:g.13102899 C>T (Genome Assembly: GRCh37) |
Exon or Intron | NA |
---|---|
Position in protein | NA |
Amino acid changes in protein | NA > NA |
Position in cDNA | NA |
Changes in cDNA | NA > NA |
mRNA accession | NA |
mRNA length | NA |
Reference length | 135006516 |
MAF in gnomAD genome (version 2.0.1) | 0.0008 |
---|---|
EIGEN score | -0.1879 |
CADD Raw score (version 1.3) | -0.147802 (Deleterious) |
FATHMM raw prediction score | 0.13689 (Tolerated) |
Deleterious probability by DeFine | 0.4345 (Neutral) |
Entrez Gene ID | 644943 (NCBI Gene) |
---|---|
Official Gene Symbol | RASSF10 (GeneCards) |
Number of variants in RASSF10 in this database | 7 (view all the variants) |
Full name | Ras association domain family member 10 |
Band | 11p15.3 |
Other IDs | Vega: OTTHUMG00000166184 OMIM: 614713 HGNC: HGNC:33984 Ensembl: ENSG00000189431 |
Other names | None |
Summary | None |
Individual ID | 29217587.01 (view all the variants in this individual) |
---|---|
Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |
Pubmed ID | 29217587 |
---|---|
Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
Journal | Science |
Publication date | 2018.02 |
Disease | Asymptomatic |
Number of cases | cases of unknown sex: 3; |